Canonical Allele Identifier: PA2826213709
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226379
ClinVar RCV Id: RCV000211568 RCV000486101 RCV000826210 RCV000590441 RCV002408918 RCV003407739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg592Cys
CA10576325
NM_001195799.2:c.1774C>T